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Gene | FGFR3 |
Variant | G372C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR3 G372C (corresponds to G370C in the canonical isoform) lies within the extracellular domain of the Fgfr3 protein (UniProt.org). G372C confers a gain of function on Fgfr3, as indicated by ligand-independent phosphorylation and dimerization of Fgfr3, and activation of MAPK pathway in cell culture (PMID: 16841094, PMID: 12009017). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 act mut FGFR3 G372C |
Transcript | NM_022965.4 |
gDNA | chr4:g.1805392G>T |
cDNA | c.1114G>T |
Protein | p.G372C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |